Message from the INPDA President
Welcome to the inaugural edition of the International Niemann Pick Disease Alliance Newsletter. The newsletter will serve as a communication tool for all of the members of the INPDA to share information and updates. It will be released in an electronic format 3 times per year. This edition is timed to coincide with October Niemann-Pick Disease Awareness Month and our first Niemann-Pick Awareness Day (October 19, 2019).
It was just 4 months ago that the INPDA members came together in Lyon for our biannual face to face meeting. It was a fabulous meeting at which we had the opportunity to review our progress, hear updates on clinical trials and new research and establish our priorities for 2019 to 2021. The meeting in Lyon was a great opportunity to reflect on how far we have come as a community and on the work still ahead. I thank all who attended for their time and energy. I look forward to working together over the next two years to continue our progress together.
We also elected a new executive committee. A special thank you is extended to Jim Green for his leadership of the INPDA since its inception, the new executive has a great base to work from and big shoes to fill. Thank you, as well, to Christoph Poincilit who is stepping down from the executive but will remain active with INPDA and NPSuisse.
I also wish to take this opportunity to thank Vaincre Les Maladies Lysosomales (VML) who served as our wonderful hosts, Marie Vanier for her assistance in program development, all of our speakers and our sponsors. Thank you so much for all of your hard work in creating such a successful event.
I invite all of you to enjoy this newsletter, review the updates from our members and to sh
are it with others.
If you would like to contribute to the next edition of this newsletter, please send your article/update to
Lisa Chavez, Executive Communications Officer,
lchavez@inpda.org
by January 13, 2020.
Every journey starts with a single step and I look forward to continuing on this journey with all of you.
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Niemann-Pick Awareness Day: October 19th
Join us on October 19th for our first ever GLOBAL Niemann-Pick Awareness Day! On this day we join together with our INPDA members from across the globe in a collaborative effort in raising awareness of Niemann-Pick Disease.
The INPDA will be sharing posts and videos on the INPDA
Facebook page, Twitter and Instagram that you can then share with your own social media community. Together we will spread the word and #USEYOURVOICE.
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Niemann-Pick Argentina
It gives us great pleasure to be able to communicate and inform our activities in view of the commemoration of the month of awareness of Niemann-Pick Disease and the next “Niemann-Pick International Day”. As a first action we redesigned our website, we located it on a free server and we gave an image a little more modern, it is already updated, although we continue working on the production of new content.
At the end of September, we will participate in a LAPA (Latin American Patient Academy) meeting where we discuss topics such as "Health Economics" and "Access to High Cost Medicines" among others. For October we have scheduled 2 Awareness Days one for professionals and another for patients, where the central theme will be Niemann-Pick Disease but where other Rare and Lysosomal Diseases will also be discussed.
We are also working on the completion of an informative app about NPD, it will be aimed at patients and professionals and we hope to present it by the end of October.
From Buenos Aires a big hug to all our brothers of life.
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Australian NPC Disease Foundation
Our biggest news of course is the success of our very first family conference and gala event celebrating our 19th anniversary of the foundation beginning. We had over 590 in attendance at the gala, 50 attend the science symposium and 14 families from around Australia attend the family conference and gala. There were emotional meetings for the very first time for many families and was an absolute overwhelming feeling to see firsthand that the Foundation was doing what I initially hoped for on establishing in 2009 in supporting families. The research side of things with presentations was of excellent standards with the likes of Marc Patterson, Mark Walterfang, Jackie Imre, and Toni Mathieson speaking so openly to the families at a level that we all could understand.
The event raised over $214000 with a net profit of approximately $75000. Our new committee brings young minds and ideas and is a welcome assistance to Kellie and myself no longer wearing it all on our own shoulders alone. We have a fundraising committee, a scientific advisory board with amazing incoming members eg. Caroline Hastings etc., Patient Liaison Manager and a wonderful fresh committee.
So in short I’d say the Aussie’s are starting to kick some goals!!!
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Niemann-Pick & Batten
Brazil Association
According to the October Niemann Pick Awareness Days, as we act all over Brazil, we will have activities in different states of the country from the begining till the end of October. So, here they are:
- In the city of São Paulo/ São Paulo: walk trough Vila Lobos Park
- In the city of Curitiba/ Paraná : lectures cycle ( partnership with the city government);
- In the cities of Dourados/RS , Salvador/Bahia, Lins/ Sáo Paulo and Silveira Martins/RS: distribution of informative materials in Hospitals and Universities;
- In Media disclosure: Facebook, Instagram, YouTube ((Banner Photos; Frame Photos)
- In Local Press Release in Curitiba on October 14th- Disclosure in local Radio on October 14th in the city of Slveira Martins/RS
Wishing a successful awareness campaign for all INPDA members.
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Niemann-Pick Canada
Niemann-Pick Canada has a new name, a new logo and a revitalized board since the INPDA meeting in Toronto in the fall of 2017. It is a fully volunteer run organization that is committed to finding a cure for Niemann-Pick Disease. We are very active in fundraising and commit this money towards funding promising research towards finding better treatments for Niemann-Pick Disease.
We are currently funding grants with the following institutions:
- Dr. Ronald Cohn, Hospital for Sick Kids, Toronto Ontario, Gene editing (NPC)
- Dr. William Paven, National Institute of Health, Gene therapy (NPC)
- Dr. Marc Schultz, University of Michigan, Studying protein treatment strategies (NPC)
- Dr. Kevin Vaughan, University of Notre Dame, Studying novel treatment strategies for Niemann-Pick Disease Type C.
We are looking forward to partnering with the INPDA awareness campaigns and looking into next steps needed for roll out of the INPDR in Canada. Let’s see what is possible when we work together!
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Overcoming Diseases
Lysosomal VML
VML France NPD group is delighted to welcome our new INPDA Newsletter. It is a great opportunity to share information and learn from each other which will enable to strengthen the international community.
Major activity apart from various fundraising events is the 'National Walk' scheduled on 6th October. The goal is to raise awareness and symbolically mark our support for the fight against rare diseases (lysosomal Diseases) and disability. This walk takes place simultaneously where the starting point is where you want.
We are also planning a webinar for the NP global awareness day in October.
We will be inviting Dr Héron and Dr Yann Nadjar for NPC and Dr Olivier Lidove and Dr Anais Brassier for NPB.
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Niemann-Pick Selbthilfegruppe
- Annual family meeting was held in Kassel (April 27-28, 2019) with attendance record - we doubled the number of participants. National and international attendees.
- Awareness raising wristbands playing with words: Niemann Pick Selten so gel(i)ebt - Rarely so much loved and rarely so intensely lived.
- Medical alert card and patient passports for ASMD and NPC patients following the design of NPUK.
- Severe structural problems in one of our main centers Villa Metabolica in Mainz.
- One of our main clinicians Dr. Eugen Mengel founded new centre "SPhinCS - Clinical Science for LSD" ww.sphincs.de/.
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Italian Association Niemann-Pick
Family meeting – 20th October 2019:
To celebrate the 1st International Niemann Pick Disease Day in Italy, we have planned a family meeting. Families are the heart of our Association it’s to bring them together that, in November 2005, Mr. Luigi Bonavita has decided to found the Italian Niemann Pick Association. So, what better way to celebrate this important day than a meeting with our families? In this meeting there will be clinicians and scientists from all the significant national centres of rare diseases and also the psychologist for the families’ support. This will be an opportunity to talk with the specialists and have an update about the progress of the research and the clinical trials; in these years we have also understand that families need to have an emotional support.
It will be also amazing to spend some time together: all of us living far away and it’s very important could meet us and share experiences because the association is like a friend group. The meeting will be in Cirié (TO), Italy on Sunday 20
th October. For information:
info@niemannpick.org
.
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Niemann-Pick Foundation
of Spain
Use of Efavirenz as a treatment for Niemann-Pick type C: After several years co-financing the study “Pharmacological characterization and prevention of cognitive and psychiatric alterations in Niemann-Pick type C Disease” carried out in the laboratory of Dr. María Dolores Ledesma (Severo Ochoa Molecular Biology Center, Madrid) has revealed the efficacy of the drug Efavirenz to treat cognitive and psychiatric problems in model mice for Niemann-Pick type C (NPC). Visit:
fnp.es/efavirenz-niemann-pick-mayo-2019/
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Niemann-Pick Association of Fuenlabrada
We introduce you to the
Asociación Niemann-Pick de Fuenlabrada
that in English would be ‘Niemann-Pick Association of Fuenlabrada’, an organisation that includes the main characteristics to form a good alliance: united, familiar and strong. We are extremely grateful to be part of the International Niemann-Pick Disease Alliance (INPDA) and, in this way, we are able to share our experiences with everyone, as well as those ones of everybody who is involved.
We want to share with all of you the events that we have carried out lately. The Town Hall of Marchamalo set up a solidarity market to collaborate with our Association, in which all the residents of this town showed their generosity; we collected €564 with this market. A solidarity march organized by the Group called ‘No Somos Nadie’, which means ‘We Are Nobody’, has also been carried out in Valdeconcha, in which €380.20 has been raised. All these contributions are destined to the investigation of Gene Therapy applied to Niemann-Pick disease.
We are now going to present the projects in which the Niemann-Pick Association of Fuenlabrada collaborates. The Association is cooperating with Intrabio Pharmaceuticals and Bellvitge Hospital in the recruitment of patients to carry out the clinical trial with IB1001. Our Association also collaborates with the charity event called 'El viaje de Marta', which means 'Marta's Journey'; it is a very important event because it gives visibility to the disease, as well as to Colombus Foundation. This charity event aims to raise funds to accelerate the clinical trial of Gene Therapy.
As for the events planned for the month of awareness of Niemann-Pick disease, our Association, together with the families that compose it, will carry out several events and it will be dedicated to the dissemination of the disease in social networks as much as possible; in this way, it will be possible to make the disease visible and raise awareness of the need for research in this field of medicine.
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NP Suisse
This year the Think Again – Think NP-C campaign by the NPSuisse runners will take place in Switzerland at the Lucerne Swiss City Marathon and at the Silvester Lauf Zurich.
In 2019 NPSuisse runners were running in Stockholm, Iceland and will participate to the Valencia marathon in Spain.
Christoph Poincilit, President of NPSuisse, will represent INPDA at the Patient Engagement Open Forum in Brussels on 19.09.18.
The LVM Group (Germany and Switzerland) has started to organize the next Loire Valley Meeting which will take place in France in one year time. This is a closed scientific meeting for 15 invited leading scientists from Europe and USA in the field of NP-C or related pathologies
.
Click here
for a summary of the LVM 2018.
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Niemann-Pick UK
"Go Make Memories" is an upcoming NPUK short film which we hope will help to raise further awareness of Niemann-Pick disease and shine a light on the daily lives of the NPUK Community. Created by Director & Producer Carl Mason (IMAGINE) and NPUK Social Media & Communications Officer John Lee Taggart, the film will be different from other awareness films you may have watched as it will use a mixture of both live action and animation to better portray the devastating effects of Niemann-Pick and the impact of this deterioration on both the individual and the wider family...
The film was created after collaborative conversations with Niemann-Pick patients, NPUK families, and individuals from INPDA member groups, in an attempt to create a narrative which better reflects the experience of those affected by Niemann-Pick disease. Go Make Memories premièred at this year's Annual Family Conference & Interactive Workshop in Wyboston Lakes, Bedfordshire, and will feature in the line-up at DISORDER: The Rare Disease Film Festival in San Francisco (November 9th - 10th). It can be viewed on the NPUK Facebook page
@NiemannPickUK and the YouTube channel,
CineBites.
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National Niemann-Pick
Disease Foundation
NNPDF held it's 27th Annual Family Support & Medical Conference in August. This conference is the largest gathering of Niemann-Pick disease patients and caregivers in the US. Families enjoyed clinical and scientific updates as well as family-support sessions and a gala dinner. Dr. Melissa Wasserstein received the NNPDF Persevere Award and Serena Heinze was the inaugural recipient of the NNPDF - Cora Sterling Endurance Award.
NNPDF launches into Niemann-Pick awareness month with exciting social media campaigns and appeals. The month also includes NNPDF participation in awareness events at Sanofi’s and Mallinckrodt’s US corporate offices, as well as featured panelists at the National Organization for Rare Disease (NORD) Patient Advocacy Summit in Washington DC.
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Therapeutic Updates
Research and clinical trials are currently in progress to study and develop treatments for ASMD and NPC. Click the links below for individual updates.
Amicus Therapeutics:
Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania (Penn) today announced a major expansion to their collaboration with...
READ MORE
CTD Holdings, Inc.:
CTD Holdings supports three clinical trials using its proprietary hydroxypropyl betacyclodextrin product, Trappsol® Cyclo™, via IV administration over an...
READ MORE
E-Scape Bio, Inc.:
E-Scape Bio Inc., a US based biotech focused on new therapeutics for genetic neurodegenerative diseases, is rapidly progressing a new therapeutic...
READ MORE
IntraBio Inc.:
IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-201,
“Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center
...
READ MORE
Mallinckrodt Pharmaceuticals:
Mallinckrodt presented an update on Study VTS301 (the Phase 2b/3 study) outlining the results of the 52-week double-blind phase of the study at several recent
...
READ MORE
Orphazyme:
The team at Orphazyme has been hard at work this summer preparing to file for approval of arimoclomol with regulators in the US (FDA) and Europe (EMA). At the same...
READ MORE
Sanofi Genzyme:
Sanofi Genzyme hosted the first Rare Registry Futures Patient Advisory Council in Rotterdam on September 6 and 7th. At this meeting, representatives from several rare...
READ MORE
StrideBio, Inc.:
StrideBio, Inc. is a gene therapy company in Research Triangle Park, NC, developing next-generation adeno-associated viral (AAV) vectors for the treatment of rare...
READ MORE
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Who We are
The International Niemann Pick Disease Alliance (INPDA) is a global network of non-profit organisations, supporting persons affected by Niemann-Pick Diseases (NPD). The alliance was formed in 2009 to provide a forum for patient groups and professionals working in the field of NPD.
In the 1990s, when a person was diagnosed with NPD they were told they would never meet anyone else affected, as the conditions are so rare. But people directly impacted by the disease – patients themselves, their family members and friends – began setting up support groups, connecting families and drawing in impassioned and dedicated people to fight their corner, determined that no family diagnosed with NPD should face the future alone.
Today, we have an international network of non-profit groups, supporting hundreds of families, and we continue to grow. By joining together through the INPDA, we give Niemann-Pick diseases a stronger global voice, and progress towards effective treatments for these conditions is accelerated.
Our Aims
The INPDA’s overall mission is to relieve sickness and distress among families affected by Niemann-Pick Diseases worldwide.
We will achieve this by sharing expertise, knowledge and skills across our network, providing mutual support between patient groups, improving information and awareness of NPD, and stimulating research.
Our network enables connections, bringing together people who can make a difference for this group of devastating rare conditions.
For more information on what we’re doing to achieve these aims, see
Our Work
.
INPDA Executive Committee
President:
Sandy Cowie
(Canada)
Vice President:
Joslyn Crowe
(USA)
Executive Secretary:
Toni Mathieson
(UK)
Executive Treasurer:
Isabel Hontanilla
(Spain)
Executive Communications Officer:
Lisa Chavez
(USA)
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International Niemann-Pick Disease Alliance
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DISCLAIMER: The National Niemann-Pick Disease Foundation (NNPDF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. The NNPDF web site is an educational service of the National Niemann-Pick Disease Foundation and is not meant to provide diagnostic or treatment advice. Information contained or suggested on our web site does not constitute medical advice. For all information related to care, medication or treatment, the NNPDF recommends consulting a physician to determine if information presented is applicable
This newsletter is a service of the National Niemann-Pick Disease Foundation's Family Services Program, made possible by the financial support of our member families and other generous donors and grantors. The NNPDF receives no government funding, nor does it host or receive funding from advertising or from the display of commercial content.
The National Niemann-Pick Disease Foundation is a 501(c)(3) organization. Your donations are fully tax-deductible.
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